Disease Term Disease ID Gene Symbol References
Hidradenitis Suppurativa C0162836 GJB2 16172043
MEFV 27106250
PSEN1
PSTPIP1 27106250
HYOU1
NCSTN 22622421
PSENEN 20929727, 28922471
NOD2 27106250
NLRP3 27106250
KDF1
Hidradenitis suppurativa, familial C1840560 PSEN1 20929727
NCSTN 20929727
PSENEN 20929727
NON RARE IN EUROPE: Hidradenitis suppurativa 387 PSEN1
NCSTN
PSENEN